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Neuroaxonal dystrophy (NAD) in dogs is an inherited condition that affects the nervous system.
Working days 10
Specifiche
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Gene | |
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specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informazioni generali
Neuroaxonal dystrophy (NAD) in dogs is an inherited condition that affects the nervous system. In the condition, there is swelling of cells in the brain which affect the communication with nerve cells. NAD can be present at birth or develop later in a dog’s life, leading to neurological dysfunction and loss of coordination.
There are multiple variants of mutations known in different breeds. This lethal variant of the disease, also known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.
Caratteristiche cliniche
I cuccioli affetti nascono con le articolazioni degli arti immobilizzate e con scoliosi della colonna vertebrale. Non sono in grado di respirare autonomamente e nascono morti o muoiono poco dopo la nascita.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 20653033
Omia ID: 2153